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CACNA1H Gene(Protein Coding)

Calcium Voltage-Gated Channel Subunit Alpha1 H

GCID:
GC16P001153
GIFtS:
68
Genes Participants
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Aliases for CACNA1H Gene

Aliases for CACNA1H Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 H 2 3 5
  • Calcium Channel, Voltage-Dependent, T Type, Alpha 1H Subunit 2 3
  • Low-Voltage-Activated Calcium Channel Alpha1 3.2 Subunit 3 4
  • Voltage-Gated Calcium Channel Subunit Alpha Cav3.2 3 4
  • Calcium Channel, Voltage-Dependent, T Type, Alpha 1Hb Subunit 3
  • Voltage Dependent T-Type Calcium Channel Alpha-1H Subunit 3
  • Voltage-Dependent T-Type Calcium Channel Subunit Alpha-1H 3
  • Low-Voltage-Activated Calcium Channel Alpha13.2 Subunit 3
  • Voltage-Gated Calcium Channel Alpha Subunit Cav3.2 3
  • Voltage-Gated Calcium Channel Alpha Subunit CavT.2 3
  • CACNA1HB 3
  • Cav3.2 3
  • HALD4 3
  • ECA6 3
  • EIG6 3

External Ids for CACNA1H Gene

Previous GeneCards Identifiers for CACNA1H Gene

  • GC16P001220
  • GC16P001144
  • GC16P001146
  • GC16P001147
  • GC16P001203

Summaries for CACNA1H Gene

Entrez Gene Summary for CACNA1H Gene

  • This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

GeneCards Summary for CACNA1H Gene

CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H) is a Protein Coding gene. Diseases associated with CACNA1H include Epilepsy, Childhood Absence 6 and Hyperaldosteronism, Familial, Type Iv. Among its related pathways are CCR5 Pathway in Macrophages and PEDF Induced Signaling. GO annotations related to this gene include ion channel activity and low voltage-gated calcium channel activity. An important paralog of this gene is CACNA1G.

UniProtKB/Swiss-Prot for CACNA1H Gene

  • Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216).

Tocris Summary for CACNA1H Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1H Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1H Gene

Genomics for CACNA1H Gene

Products:

  1. Regulatory Element

Regulatory Elements for CACNA1H Gene

Enhancers for CACNA1H Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G001179 1.4 Ensembl ENCODE dbSUPER 5.8 +28.8 28829 4.1 KLF17 SIN3A THRB ZNF48 RAD21 RARA YY1 GLIS2 FOS ZNF391 TPSG1 CACNA1H UNKL GC16M001181 ENSG00000259910
GH16G001137 1.2 ENCODE dbSUPER 6 -15.4 -15366 1.2 HDAC1 ELF3 ATF1 FOXA2 MLX ARID4B E2F7 RAD21 DNMT3B ZSCAN9 LMF1 SOX8 CACNA1H LOC105371042 SLC6A10PB
GH16G001151 1 ENCODE dbSUPER 6.9 -0.9 -871 1.5 CTCF MXI1 KLF1 RBBP5 ZKSCAN1 HIC1 ZFHX2 GLIS2 POLR2A EGR1 CACNA1H GC16M001144
GH16G001188 0.9 ENCODE 6.7 +35.8 35755 0.2 ELF3 ARID4B SIN3A DNMT3B ZNF48 ZSCAN9 RARA SLC30A9 GLIS2 SCRT2 CACNA1H LOC102723999 GC16P001205
GH16G001189 0.7 FANTOM5 6.8 +36.2 36199 0.2 ZNF121 GLIS2 ZGPAT PATZ1 SCRT2 SIN3A REST SMARCB1 CACNA1H BAIAP3 LOC102723999 GC16P001205
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACNA1H on UCSC Golden Path with GeneCards custom track

Promoters for CACNA1H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082301 179 1801 CTCF MXI1 KLF1 RBBP5 ZFHX2 POLR2A EGR1 PATZ1 PRDM10 ZNF600

Transcription factor binding sites by QIAGEN in the CACNA1H gene promoter:

Genomic Location for CACNA1H Gene

Chromosome:
16
Start:
1,153,121 bp from pter
End:
1,221,772 bp from pter
Size:
68,652 bases
Orientation:
Plus strand

Genomic View for CACNA1H Gene

Genes around CACNA1H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1H Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CACNA1H Gene

Proteins for CACNA1H Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CACNA1H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95180-CAC1H_HUMAN
    Recommended name:
    Voltage-dependent T-type calcium channel subunit alpha-1H
    Protein Accession:
    O95180
    Secondary Accessions:
    • B5ME00
    • F8WFD1
    • O95802
    • Q8WWI6
    • Q96QI6
    • Q96RZ9
    • Q9NYY4
    • Q9NYY5

    Protein attributes for CACNA1H Gene

    Size:
    2353 amino acids
    Molecular mass:
    259163 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK61268.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC42094.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNA1H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1H Gene

Protein Expression for CACNA1H Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CACNA1H Gene

  • In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
  • Glycosylation at Asn192, Asn271, and posLast=14661466
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1H Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CACNA1H Gene

Domains & Families for CACNA1H Gene

Gene Families for CACNA1H Gene

HGNC:
IUPHAR :

Protein Domains for CACNA1H Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CACNA1H Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95180

UniProtKB/Swiss-Prot:

CAC1H_HUMAN :
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily.
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily.
genes like me logo Genes that share domains with CACNA1H: view

Function for CACNA1H Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CACNA1H Gene

GENATLAS Biochemistry:
calcium low voltage-activated (LVA) channel (VDCC),alpha 1H subunit,T (fast inactivation,small conductance) type,expressed in kidney,brain,heart
UniProtKB/Swiss-Prot Function:
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216).

Gene Ontology (GO) - Molecular Function for CACNA1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA --
GO:0005248 voltage-gated sodium channel activity IBA --
GO:0005262 calcium channel activity IEA --
GO:0008332 low voltage-gated calcium channel activity IDA 21084288
genes like me logo Genes that share ontologies with CACNA1H: view
genes like me logo Genes that share phenotypes with CACNA1H: view

Animal Models for CACNA1H Gene

MGI Knock Outs for CACNA1H:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA1H

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CACNA1H Gene

Localization for CACNA1H Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1H Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA1H gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CACNA1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0005891 voltage-gated calcium channel complex TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA 21084288
genes like me logo Genes that share ontologies with CACNA1H: view

Pathways & Interactions for CACNA1H Gene

genes like me logo Genes that share pathways with CACNA1H: view

Gene Ontology (GO) - Biological Process for CACNA1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9670923
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006936 muscle contraction TAS 9670923
GO:0007517 muscle organ development NAS 9670923
genes like me logo Genes that share ontologies with CACNA1H: view

No data available for SIGNOR curated interactions for CACNA1H Gene

Drugs & Compounds for CACNA1H Gene

Products:

  1. Drug

(47) Drugs for CACNA1H Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 68
Felodipine Approved, Investigational Pharma Potentiation, Activator, Target, inhibitor 22
Nitrendipine Approved Pharma Inhibition, Pore Blocker, Target, inhibitor Calcium channel blocker 5
Flunarizine Approved Pharma blocker, Target, inhibitor 5
Bepridil Approved, Withdrawn Pharma Pore Blocker, Target, inhibitor 0

(5) Additional Compounds for CACNA1H Gene - From: Tocris and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
kurtoxin
Channel blocker
SB209712
Channel blocker
(+-)-Bay K 8644
71145-03-4
omega-agatoxin IVA
Channel blocker 145017-83-0
omega-conotoxin GVIA
Channel blocker 106375-28-4

(5) Tocris Compounds for CACNA1H Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) 116666-63-8
omega-Agatoxin IVA Ca2+ channel blocker (P-type) 145017-83-0
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) 106375-28-4
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels 148553-50-8

(31) ApexBio Compounds for CACNA1H Gene

Compound Action Cas Number
2-APB 524-95-8
Amlodipine Calcium channel blocker 88150-42-9
Amlodipine Besylate Block of L-type calcium channel 111470-99-6
Azelnidipine L-type calcium channel blocker;antihypertensive 123524-52-7
Benidipine HCl Calcium channel blocker 91599-74-5
Cilnidipine Blocker of Dual L- and N-type calcium channel 132203-70-4
Cinepazide maleate 26328-04-1
Clevidipine Butyrate 167221-71-8
Dehydroepiandrosterone (DHEA) Endogenous steroid hormone 53-43-0
Diltiazem HCl 33286-22-5
Felodipine 72509-76-3
Flunarizine 2HCl Calcium entry blocker 30484-77-6
Gabapentin HCl GABA analog 60142-95-2
Isradipine (Dynacirc) Calcium channel blocker 75695-93-1
Lacidipine L-type calcium channel blocker 103890-78-4
Lomerizine HCl 101477-54-7
Manidipine Calcium channel blocker 89226-50-6
Manidipine 2HCl 89226-75-5
Mibefradil dihydrochloride Ca2+ channel blocker ,antihypertensive 116666-63-8
Nicardipine HCl 54527-84-3
Nilvadipine 75530-68-6
Nisoldipine 63675-72-9
Nitrendipine Calcium channel blocker 39562-70-4
NNC 55-0396 T-type calcium channel blocker 357400-13-6
Ranolazine 2HCl Partial fatty acid oxidation inhibitor 95635-56-6
Strontium Ranelate 135459-87-9
Tetracaine HCl Anaesthetic and allosteric inhibitor 136-47-0
Tetrandrine 518-34-3
Thioridazine HCl Calcium channel protein inhibitor 130-61-0
Verapamil HCl 152-11-4
Zonisamide Antiepileptic with anticonvulsant and mechanistic effect 68291-97-4
genes like me logo Genes that share compounds with CACNA1H: view

Transcripts for CACNA1H Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CACNA1H Gene

(13) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(69) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACNA1H Gene

Calcium channel, voltage-dependent, T type, alpha 1H subunit:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1H Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CACNA1H Gene

GeneLoc Exon Structure for
CACNA1H
ECgene alternative splicing isoforms for
CACNA1H

Expression for CACNA1H Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACNA1H Gene

mRNA expression in normal human tissues for CACNA1H Gene
mRNA expression by BioGPS for CACNA1H GenemRNA expression by GTEx for CACNA1H Gene

mRNA differential expression in normal tissues according to GTEx for CACNA1H Gene

This gene is overexpressed in Colon - Sigmoid (x5.5), Esophagus - Muscularis (x4.9), and Esophagus - Gastroesophageal Junction (x4.7).

Protein differential expression in normal tissues from HIPED for CACNA1H Gene

This gene is overexpressed in Liver (54.3) and Breast (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1H Gene



Protein tissue co-expression partners for CACNA1H Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNA1H Gene:

CACNA1H

SOURCE GeneReport for Unigene cluster for CACNA1H Gene:

Hs.459642

mRNA Expression by UniProt/SwissProt for CACNA1H Gene:

O95180-CAC1H_HUMAN
Tissue specificity: In nonneuronal tissues, the highest expression levels are found in the kidney, liver, and heart. In the brain, most abundant in the amygdala, caudate nucleus, and putamen (PubMed:9670923, PubMed:9930755). In the heart, expressed in blood vessels. Isoform 1 and isoform 2 are expressed in testis, primarily in the germ cells, but not in other portions of the reproductive tract, such as ductus deferens. Isoform 2 is not detected in brain (PubMed:11751928). Expressed in the adrenal glomerulosa (at protein level) (PubMed:25907736, PubMed:27729216).

Evidence on tissue expression from TISSUES for CACNA1H Gene

  • Heart(4.3)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1H Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with CACNA1H: view

Primer Products

Orthologs for CACNA1H Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CACNA1H 34
  • 90.58 (n)
dog
(Canis familiaris)
 Mammalia CACNA1H 34 35
  • 85.58 (n)
cow
(Bos Taurus)
 Mammalia CACNA1H 34 35
  • 84.76 (n)
mouse
(Mus musculus)
 Mammalia Cacna1h 34 16 35
  • 83.21 (n)
rat
(Rattus norvegicus)
 Mammalia Cacna1h 34
  • 83.08 (n)
oppossum
(Monodelphis domestica)
 Mammalia CACNA1H 35
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CACNA1H 34 35
  • 73.33 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100494894 34
  • 68.45 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC560875 34
  • 64.36 (n)
cacna1hb 35
  • 62 (a)
 OneToMany
cacna1ha 35
  • 61 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea cca-1 36 35
  • 58 (a)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.9858 34
Species where no ortholog for CACNA1H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNA1H Gene

ENSEMBL:
Gene Tree for CACNA1H (if available)
TreeFam:
Gene Tree for CACNA1H (if available)

Paralogs for CACNA1H Gene

Variants for CACNA1H Gene

Sequence variations from dbSNP and Humsavar for CACNA1H Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs119454947 other, Epilepsy, childhood absence 6 (ECA6) [MIM:611942] 1,195,503(+) CTGTT(A/C/G/T)GGGCA upstream-variant-2KB, reference, synonymous-codon
rs119454948 other, Epilepsy, childhood absence 6 (ECA6) [MIM:611942] 1,200,296(+) AGACG(A/G)AGGAG reference, missense
rs119454949 other, Epilepsy, childhood absence 6 (ECA6) [MIM:611942] 1,205,153(+) ACATC(A/G)TGTTC reference, missense
rs142306293 Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942] 1,204,271(+) CCCAG(A/G)CCCAG reference, missense
rs267606697 other, Epilepsy, childhood absence 6 (ECA6) [MIM:611942] 1,204,325(+) GCCAG(A/G)CTGGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CACNA1H Gene

Variant ID Type Subtype PubMed ID
dgv2691n100 CNV gain 25217958
dgv2692n100 CNV gain 25217958
dgv321e201 CNV deletion 23290073
dgv4841n54 CNV loss 21841781
esv1043406 CNV insertion 17803354
esv1352926 CNV insertion 17803354
esv1586925 CNV insertion 17803354
esv2037799 CNV deletion 18987734
esv2422427 CNV duplication 17116639
esv25233 CNV loss 19812545
esv25289 CNV loss 19812545
esv2663962 CNV deletion 23128226
esv2750298 CNV deletion 23290073
esv2750299 CNV deletion 23290073
esv2750301 CNV deletion 23290073
esv2750303 CNV deletion 23290073
esv2750304 CNV deletion 23290073
esv27714 CNV loss 19812545
esv3367198 CNV duplication 20981092
esv3637605 CNV loss 21293372
esv3892754 CNV loss 25118596
nsv1046885 CNV gain 25217958
nsv1051302 CNV gain 25217958
nsv1071247 CNV deletion 25765185
nsv1136205 CNV deletion 24896259
nsv1160327 CNV deletion 26073780
nsv428316 CNV gain+loss 18775914
nsv457315 CNV gain 19166990
nsv457326 CNV loss 19166990
nsv471066 CNV loss 18288195
nsv471067 CNV gain 18288195
nsv571046 CNV gain 21841781
nsv571101 CNV gain 21841781
nsv571102 CNV loss 21841781
nsv571105 CNV loss 21841781
nsv571106 CNV loss 21841781
nsv571107 CNV loss 21841781
nsv571108 CNV loss 21841781
nsv571109 CNV gain 21841781
nsv7274 OTHER inversion 18451855
nsv827492 CNV gain 20364138
nsv833117 CNV loss 17160897
nsv952899 CNV deletion 24416366

Variation tolerance for CACNA1H Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.35; 92.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA1H Gene

Human Gene Mutation Database (HGMD)
CACNA1H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1H Gene

Disorders for CACNA1H Gene

MalaCards: The human disease database

(10) MalaCards diseases for CACNA1H Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1H_HUMAN
  • Epilepsy, childhood absence 6 (ECA6) [MIM:611942]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269 PubMed:12891677}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269 PubMed:15048902}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027]: A form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. {ECO:0000269 PubMed:25907736, ECO:0000269 PubMed:27729216}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CACNA1H

Genetic Association Database (GAD)
CACNA1H
Human Genome Epidemiology (HuGE) Navigator
CACNA1H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1H
genes like me logo Genes that share disorders with CACNA1H: view

No data available for Genatlas for CACNA1H Gene

Publications for CACNA1H Gene

  1. Association between genetic variation of CACNA1H and childhood absence epilepsy. (PMID: 12891677) Chen Y. … Wu X. (Ann. Neurol. 2003) 3 4 22 46 64
  2. Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. (PMID: 9670923) Cribbs L.L. … Perez-Reyes E. (Circ. Res. 1998) 2 3 4 22 64
  3. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. (PMID: 17696120) Heron S.E. … Zamponi G.W. (Ann. Neurol. 2007) 3 22 46 64
  4. CACNA1H mutations are associated with different forms of primary aldosteronism. (PMID: 27729216) Daniil G. … Zennaro M.C. (EBioMedicine 2016) 3 4 64
  5. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. (PMID: 25907736) Scholl U.I. … Lifton R.P. (Elife 2015) 3 4 64

Products for CACNA1H Gene

Sources for CACNA1H Gene

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